Aniridia Network

Aniridia Network Membership and hence our services are available to people living in the UK and Ireland.

We are a support group concerned with the rare genetic condition aniridia – which causes a lack of irises (the coloured ring) in the eyes and poor vision from birth. Our values are:
• Positive
• Informative
• Specialised
• Inclusive
• Supportive
• Approachable

Our beliefs are:

• Every person with/associated with aniridia:
o has their own story to tell and something and unique to contribute
o

can benefit from shared experiences.

• People with aniridia can have a fulfilling life and contribute to society.

• People should have accurate and up-to-date information about all aspects of aniridia

• Everyone with aniridia should receive the best quality: medical, education and welfare services appropriate to their individual needs.

• Medical research and treatments can benefit people with aniridia.

RESEARCH: "Approximately 5% to 10% of individuals with classic aniridia do not receive a molecular diagnosis after clini...
23/05/2026

RESEARCH: "Approximately 5% to 10% of individuals with classic aniridia do not receive a molecular diagnosis after clinical testing for variants in PAX6 and its downstream regulatory region.
Objective: To apply optical genome mapping (OGM) and long-read whole-genome sequencing (lrWGS) to diagnose an individual with unexplained classic aniridia.

This diagnostic study aims to determine whether optical genome mapping and long-read whole-genome sequencing can identify a pathogenic structural variant disrupting PAX6 in an individual with classic aniridia after negative standard clinical and short-read genomic testing.

Nicky enjoyed the 3-day 8th with our funding. The event brought together clinicians, researchers, patients and relativ...
26/04/2026

Nicky enjoyed the 3-day 8th with our funding. The event brought together clinicians, researchers, patients and relatives to discuss various aspects of aniridia, while incorporating patient experiences into the dialogue.

Nicky, an ophthalmology registrar and PhD student, attended the 8th European Aniridia Conference in Sofia, Bulgaria, thanks to Aniridia Network’s support. The three-day event brought together…

19/04/2026

EAC and EACLA are done. Thank you all!

18/04/2026

Barbara Poli announces the winner of the Young Researchers Poster Contest—Elsa Berg—and presents a special award in memory of Barbara Käsmann-Kellner.
In honour of Prof. Käsmann-Kellner, we remember not only her outstanding scientific contributions, but also her kindness, generosity, and unwavering dedication to the aniridia community. Her legacy continues to guide and motivate us all❤️ Aniridia Conferencee

Our firend Dulce speaking at
18/04/2026

Our firend Dulce speaking at

We’ve just heard the presentation “Cornea organoids from aniridia-derived iPSC” by Dulce Lima Cunha—highlighting a very interesting idea of using amlexanox as a potential therapy for ARK, combining anti-inflammatory effects with the ability to target nonsense mutations and restore PAX6 expression.
European Aniridia Conference

18/04/2026
James has arranged the programe and is hosting the 3 day European Aniridia Leadership & Collaboration Academy at
18/04/2026

James has arranged the programe and is hosting the 3 day European Aniridia Leadership & Collaboration Academy at

We kicked off the European Aniridia Leadership and Collaboration Academy (EALCA) this morning in Sofia 🇧🇬
Participants are already coming together with a strong sense of purpose—eager to connect, collaborate, and engage in the days ahead. We look forward to insightful discussions, shared experiences, and impactful outcomes from this year’s AcademyEuropean Aniridia Conferencence

Pre-conference dinner: Our trustees Katie and James are already swapping notes wirh other delegrates at
18/04/2026

Pre-conference dinner: Our trustees Katie and James are already swapping notes wirh other delegrates at

Aniridia community, has gathered in Sofia ahead of tomorrow’s conference, setting the stage for an inspiring few days.

There’s a real sense of excitement in the air as we look forward to hearing the latest insights, breakthroughs, and perspectives from scientists, clinicians, and experts from across the world!

See you tomorrow!

17/04/2026

Super excited to be starting the European Aniridia Leadership & Collaboration Academy which aims to develop people to be future leaders of aniridia associations

16/04/2026

Arrived at the hotel for the 8th European Aniridia Conference in Bulgaria.

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+443301201816

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